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Thalassemia is a blood disorder. It cuts down the amount of red blood cells and hemoglobin that the body can make. Red blood cells carry oxygen to all the organs in the body. Hemoglobin is a part of red blood cells that help grab oxygen at the lungs. Low levels of red blood cells and hemoglobin and abnormal hemoglobin can lead to anemia and difficulty carrying oxygen. Anemia interferes with normal bodily functions.
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Thalassemias are split into 2 main categories. The categories are based on the part of hemoglobin that is affected:
Thalassemia is caused by faults in specific genes. It is an inherited disorder. This means the affected person received the faulty genes from the parents. The severity of the thalassemia will depend on the number of faulty genes that a child inherits. There are 4 genes needed for hemoglobin, 2 from each parent. The number of genes that are faulty will determine the severity and subtype of thalassemia:
Factors that increase your chance of thalassemia include:
Silent carriers will have no symptoms. For others, symptoms most often begin within 3-6 months of birth.
Symptoms of mild or moderate anemia may include:
Symptoms of severe anemia include:
General findings of thalassemia may include:
Thalassemia can also lead to complications such as:
You will be asked about your symptoms and medical history. A physical exam will be done.
Blood tests will be done to analyze your hemoglobin and measure levels of:
Genetic testing may help make the diagnosis in some types of thalassemia
Treatment will be based on the type and severity of anemia. Mild forms may not need treatment. More severe forms may need:
Blood transfusions will help provide healthy new red blood cells. The blood comes from a donor and is carefully screened before it is delivered in a transfusion.
Repeated blood transfusions can lead to high levels of iron in the blood. This can damage the heart, liver, and other vital organs. Certain medications can bind to the iron and carry it out of the body through urine.
Healthy stem cells from a donor's bone marrow are injected into a vein. The new cells travel through the blood into the bone cavities. There, they can produce new normal blood cells. This may be a cure in some. However, it can be hard to find a good match with a donor and there are many complications.
Thalassemia can cause the spleen to enlarge. An enlarged spleen can make anemia worse. A splenectomy is a surgery to remove the spleen. It may help reduce the number of blood transfusions that are needed.
Complications and impact on your daily activities may be reduced by following basic healthy lifestyle tips:
This disease is inherited. Blood tests and family genetic studies will show if you are a carrier. A genetic counselor can discuss the risks of passing on the disease.
Northern California Comprehensive Thalassemia Center
National Heart, Lung, and Blood Institute
Canadian Hemophilia Society
The Thalassemia Foundation of Canada
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4/24/2014 DynaMed Plus Systematic Literature Surveillancehttp://www.dynamed.com/topics/dmp~AN~T114657/Alpha-thalassemia. Thalassaemia in pregnancy, Management of Beta (Green-top 66). Royal College of Obstetrians and Gynaecologists website. Available at: https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg66. Published March 27, 2014. Accessed September 19, 2017.
Last reviewed September 2018 by EBSCO Medical Review Board Michael Woods, MD, FAAP Last Updated: 8/24/2017